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The International Journal on Orbital Disorders, Oculoplastic and Lacrimal Surgery
Volume 43, 2024 - Issue 3
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Case Report

Recurrent orbital inflammation associated with VEXAS syndrome

ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon
Pages 350-353 | Received 17 Aug 2022, Accepted 14 Sep 2022, Published online: 27 Sep 2022

References

  • Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–2638. doi:10.1056/NEJMoa2026834.
  • Georgin-Lavialle S, Terrier B, Guedon AF, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186(3):564–574. doi:10.1111/bjd.20805.
  • Ciprian G. Adverse reaction to COVID-19 mRNA vaccination in a patient with VEXAS syndrome. Cureus. 2022;14:e23456.
  • Goyal A, Narayanan D, Wong W, et al. Tocilizumab for treatment of cutaneous and systemic manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome without myelodysplastic syndrome. JAAD Case Rep. 2022;23:15–19. doi:10.1016/j.jdcr.2022.02.022.
  • Martin-Nares E, Vargas-Serafin C, Delgado-de la Mora J, et al. Orbital and periorbital inflammation in VEXAS syndrome. Scand J Rheumatol. 2022;51(4):338–341.
  • Delplanque M, Aouba A, Hirsch P, et al. USAID associated with myeloid neoplasm and VEXAS syndrome: two differential diagnoses of suspected adult onset still’s disease in elderly patients. J Clin Med. 2021;10(23):5586. doi:10.3390/jcm10235586.
  • Poulter JA, Collins JC, Cargo C, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021;137(26):3676–3681. doi:10.1182/blood.2020010286.
  • Rivera EG, Patnaik A, Salvemini J, et al. SARS-CoV-2/COVID-19 and its relationship with NOD2 and ubiquitination. Clin Immunol. 2022;238:109027. doi:10.1016/j.clim.2022.109027.
  • Takahashi N, Takeichi T, Nishida T, et al. Extensive multiple organ involvement in VEXAS syndrome. Arthritis Rheumatol. 2021;3(10):1896–1897. doi:10.1002/art.41775.
  • Diprose WK, Jordan A, Anderson NE. Autoinflammatory syndromes in neurology: when our first line of defence misbehaves. Pract Neurol. 2021;22(2):145–153. doi:10.1136/practneurol-2021-003031.
  • van der Made CI, Potjewijd J, Hoogstins A, et al. Adult-Onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of patients with VEXAS. J Allergy Clin Immunol. 2022;149(1):432–439 e434. doi:10.1016/j.jaci.2021.05.014.
  • Heiblig M, Patel BA, Groarke EM, Bourbon E, Sujobert P. Toward a pathophysiology inspired treatment of VEXAS syndrome. Semin Hematol. 2021;58(4):239–246. doi:10.1053/j.seminhematol.2021.09.001.
  • Campochiaro C, Tomelleri A, Cavalli G, et al. Successful use of cyclosporin a and interleukin-1 blocker combination therapy in VEXAS syndrome: a single-center case series. Arthritis Rheumatol. 2022;74(7):1302–1303. doi:10.1002/art.42101.
  • Islam S, Cullen T, Sumpton D, et al. VEXAS syndrome: lessons learnt from an early Australian case series. Intern Med J. 2022;52(4):658–662. doi:10.1111/imj.15742.
  • Koster M, Warrington K. VEXAS within the spectrum of rheumatologic disease. Semin Hematol. 2021;58(4):218–225. doi:10.1053/j.seminhematol.2021.10.002.
  • Ferrada MA, Sikora KA, Luo Y, et al. Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients with VEXAS. Arthritis Rheumatol. 2021;73(10):1886–1895. doi:10.1002/art.41743.
  • Lacombe V, Beucher A, Urbanski G, et al. Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome. Exp Hematol Oncol. 2021;11(1):6. doi:10.1186/s40164-022-00262-5.
  • Beaumesnil S, Boucher S, Lavigne C, Urbanski G, Lacombe V. Ear, nose, throat, and bronchial involvements in VEXAS syndrome: specifying the spectrum of clinical features. JAMA Otolaryngol Head Neck Surg. 2022;148(3):284–286. doi:10.1001/jamaoto.2021.4092.
  • Muratore F, Marvisi C, Castrignano P, et al. VEXAS syndrome: a case series from a single-center cohort of Italian patients with vasculitis. Arthritis Rheumatol. 2022;74(4):665–670. doi:10.1002/art.41992.
  • Raaijmakers M, Hermans M, Aalbers A, et al. Azacytidine treatment for VEXAS syndrome. Hemasphere. 2021;5(12):e661. doi:10.1097/HS9.0000000000000661.
  • Staels F, Betrains A, Woei AJF, et al. Case report: VEXAS syndrome: from mild symptoms to life-threatening macrophage activation syndrome. Front Immunol. 2021;12:678927. doi:10.3389/fimmu.2021.678927.
  • Lacombe V, Kosmider O, Prevost M, Lavigne C, Urbanski G. Severe joint involvement in VEXAS syndrome: a case report. Ann Intern Med. 2021;174(7):1025–1027. doi:10.7326/L21-0023.
  • Magnol M, Couvaras L, Degboe Y, et al. VEXAS syndrome in a patient with previous spondyloarthritis with a favourable response to intravenous immunoglobulin and anti-IL17 therapy. Rheumatology (Oxford). 2021;60(9):e314–e315. doi:10.1093/rheumatology/keab211.
  • Sharma A, Naidu G, Deo P, Beck DB. VEXAS syndrome with systemic lupus erythematosus: expanding the spectrum of associated conditions. Arthritis Rheumatol. 2022;74(2):369–371. doi:10.1002/art.41957.
  • Matsumoto H, Asano T, Tsuchida N, et al. Behçet’s disease with a somatic UBA1 variant: expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol. 2022;238:108996. doi:10.1016/j.clim.2022.108996.
  • Thomas V, Penmetcha M. Myelodysplastic syndrome associated with auto-immune inflammatory disease in VEXAS syndrome. J Hematol. 2021;10(6):274–276. doi:10.14740/jh940.
  • Kirino Y, Takase-Minegishi K, Tsuchida N, et al. Tocilizumab in VEXAS relapsing polychondritis: a single-center pilot study in Japan. Ann Rheum Dis. 2021;80(11):1501–1502. doi:10.1136/annrheumdis-2021-220876.
  • Duminuco A, Vetro C, Markovic U, Di Raimondo F, Palumbo GAM. VEXAS-Like syndrome: a potential new entity? Ann Hematol. 2022;101(5):1125–1128. doi:10.1007/s00277-022-04818-7.
  • Heiblig M, Ferrada MA, Gerfaud-Valentin M, et al. Clinical efficacy of JAK inhibitors in patients with vexas syndrome: a multicenter retrospective study. Blood. 2021;138:2608. doi:10.1182/blood-2021-150394.

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